Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017636 | SCV001178745 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-12-03 | criteria provided, single submitter | clinical testing | The c.2953delT pathogenic mutation, located in coding exon 9 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 2953, causing a translational frameshift with a predicted alternate stop codon (p.S985Lfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Invitae | RCV001213465 | SCV001385097 | pathogenic | Familial cancer of breast | 2022-03-27 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PALB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser985Leufs*5) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575). ClinVar contains an entry for this variant (Variation ID: 822351). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV001213465 | SCV004186131 | pathogenic | Familial cancer of breast | 2023-09-14 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |